Table 2.

Strategies to facilitate delivery of genetic services via integration with primary care

Authors, year, Country	Objective	Study design	Methods/population studied	Findings and conclusions
Bernard et al. (2010) USA	To determine whether having a genetic counselor on site at a family medicine clinic improved the quality of the family history field in patient medical records	Pretest/ posttest analysis	N = 84 patients with a concerning family history that the genetic counselor discussed with the provider	Results supported the conclusion that behavioral modification is difficult in a primary care clinic. It is highly recommended that efforts and funding be directed towards education and development of tools to assist with collecting and interpreting family history information.
Buchanan et al. (2015) USA	To report on the cost, patient satisfaction, and attendance comparing telegenetics with in-person cancer counseling services among patients	Randomized trial	N = 162 patients from 4 rural oncology clinics randomly assigned to either in-person or telegenetic counseling	The cost of cancer genetic counseling via telegenetics was less than half of the cost of in-person counseling services. Patient satisfaction was high among those who used telegenetics services, even for those with a low level of comfort with computers. The results supported the telemedicine delivery models.
Carroll et al. (2009) Canada	To increase PCPs’ awareness and use of genetic services, knowledge of clinical genetics, and confidence in their ability to provide genetic services	Cross-sectional	N = 29 participants (response rate = 72%) An initial questionnaire completed, followed by a workshop, and then a follow-up questionnaire.	There was a need for genetic education for PCPs. The relevant, case-based genetic information provided in an interactive, interdisciplinary learning environment was able to improve the knowledge and confidence of PCPs.
Cartmell et al. (2018) USA	To develop and implement a cross-sectional survey to document the availability of five key Commission on Cancer accreditation standards for cancer centers	Implement-ation study	16 of 17 eligible cancer centers in South Carolina completed a survey Survey included questions about the availability of (1) patient navigation; (2) distress screening; (3) genetic risk assessment and counseling; (4) survivorship care planning; and (5) palliative care	Forty-four-percent provided patient navigation; 31% conducted distress screening; and 44% reported providing genetic risk assessment and counseling. Over 85% of the centers reported having an active palliative care program, palliative care providers and a hospice program, but fewer had palliative outpatient services (27%), palliative inpatient beds (50%) or inpatient consultation teams (31%). The survey is a potentially practical method for monitoring statewide availability of cancer patient support services.
Christianson et al. (2012) USA	To assess input offered by PCPs about the incorporation of a family health history risk assessment tool into a community health care system	Qualitative	N = 14 PCPs and 2 mid-level providers 3 Semi-structured focus groups conducted	The development of family history collection tools and educational resources to improve PCP genetic literacy alone may not be sufficient to facilitate the integration of genomic medicine into primary care. The results showed that PCPs who wish to integrate genomic medicine services into their practices will need a supportive infrastructure including access to geneticists or genetic counselors and evidence-based guidelines.
Cragun and Pal (2013) USA	To review the literature for recommendations to feasibly and appropriately identify patients at high risk of inherited cancer predisposition	Review	Literature searched and analyzed	Medical understandings of diseases due to genetic variation will continually evolve in the future. Advancements to benefit patient care will necessitate enhanced PCP proficiency in genetics and a collaborative, multidisciplinary approach.
David et al. (2015) USA	To review information about patient-centered medical homes (PCMH) to implement genomic medicine in a patient-centered health care system	Literature review	Literature and insights from workshops convened by the Institute of Medicine Roundtable on Translating Genomic-Based Research for Health analyzed	Due to the complexity and heterogeneity of primary health care, genomic medicine integration must optimize the use and cost of personalized health care and continue to support the primary care workforce.
de Hoog et al. (2014) The Netherlands	To review the literature to identify characteristics of existing family his-tory tools and explore potential use in primary care settings	Systematic review	Systematic searches of PubMed, Embase, and Cinahl for articles published 2002–2012 performed; relevant articles extracted and analyzed	Eighteen family history tools were identified: six genetic, two for cardiovascular disease, and ten for cancer. The six generic tools were partly tested in primary care, were mainly computerized, rarely included management recommendations for the physician, and were partly validated against a reference standard (i.e., genetic counselor). No family history tool allows electronic transfer of family history information to electronic medical record systems. Family history tools improved identification of patients at high risk for disease. Implementation cannot be advised yet with limited validation studies.
Hamilton et al. (2014) USA	To identify characteristics of genetic services that affect the adoption of these services by health care organizations	Qualitative	N = 64 key informants across 5 medical specialties from 13 different Veterans Affairs facilities Semi-structured interviews conducted	Adoption and implementation of genetic services will require multilevel measures that include education, opportunities to underscore the benefits of genetic medicine, strategies for making genomic medicine less complex and for accessing genetics expertise, and resources for assessing the value of genetic information.
Harding et al. (2019) Canada	To explore the self-identified needs of both urban and rural PCPs to provide genetic care	Qualitative	N = 10 key informant; one urban and two rural focus groups of PCPs in Ontario, Canada Using a qualitative grounded theory approach, interview and focus group data synthesized and analyzed	PCPs identified a need to integrate genetics into primary care practice but they perceived barriers, which included a lack of knowledge and confidence, access to timely consultations, and clearly defined roles for themselves and specialists. Interventions that are directed at accessible, just-in-time support and consultation have the potential to empower PCPs to manage their patients’ genetic conditions.
Harvey et al. (2007) USA	To investigate what individuals with genetic conditions and their families experience during encounters with their health care providers	Cross-sectional	N = 5915 participants recruited from organizations that are members of the Genetic Alliance. Surveys completed	About 64% reported receiving no genetics education materials from their providers. Results stress the importance of allied health providers and demonstrate the need for a team-based approach to care. Education of health care professionals about genetics is critical.
Hilgart et al. (2012) UK	To identify studies of genetic services carried out through video-conferencing to determine the value of telegenetics	Systematic review	Relevant literature published between 1996 and 2011 Search of MEDLINE, EMBASE, Psych-INFO, CINAHL, British Nursing Index, Cochrane Library, and Web of Science.	Most patients received telegenetics consultation using video-conferencing with a genetics specialist. All studies reviewed indicated high patient satisfaction with telegenetics. Many studies had small sample sizes and lack of statistical analyses. Telegenetics may be useful for providing routine counseling and evaluation of pediatric patients.
Kaplan (2014) USA	To explore if the frequency of discussions with physicians about breast cancer risk, risk reduction options, and appropriate referrals is significantly affected by the provision of an individualized risk report	RCT	N = 1235 multi-ethnic and multi-lingual women aged 40–74 from 2 primary care practices, randomly assigned to intervention (n = 580) or control (n = 655) Intervention group received individualized risk report from BreastCARE	BreastCARE showed that combining an easy-to-use risk assessment tool with individualized risk reports at the point of care can successfully promote discussion of breast cancer risk reduction between patients and PCPs.
Kaye (2012) USA	To explore the structure of genetic medicine and its interface with primary care, with a particular focus on the delivery of care	Literature review	Literature relevant to different models of genetic services delivery, quality improvement tools, benefits of information networks examined and discussed	Several models for genetics service delivery, along with related quality improvement tools, were discussed for implementation. Delivery of genetic services to all population will likely be handled by PCPs with the support of genetic health care professionals.
Kubendran et al. (2016) USA	To develop a collaborative service delivery model with the aim to facilitate access to genetic services	Model development and evaluation	N = 265 patients Protocols for evaluating common genetic indications developed Patients who had indications suggesting a syndromic etiology scheduled for a geneticist visit via telegenetics; other patients were scheduled for an in-person genetic counseling and pediatrician visit and then a geneticist visit if indicated Appointment and referrals tracked and patient satisfaction surveys administered	Of the 265 patients, 44% were evaluated by a pediatrician and genetic counselor in person first, and 71% of those then saw a geneticist. Patients were able to secure a pediatrician and genetic counselor visit within 6 weeks while new appointment with a geneticist ranged from 3 to 9 months. Satisfaction with this protocol was high. The pediatrician/genetic counselor clinic resembles the type of collaborative care provided by a medical home. Genetic and primary care integration and genetic services provided via telegenetics offer a novel solution to improve access to genetic care, especially for residents of chronically underserved regions.
McDonald et al. (2014) USA	To determine the acceptability of telegenetics and other cancer genetic counseling models of service delivery in geographically remote settings	Cross-sectional	N = 149 participants, including new referrals with history-based risk factors hereditary cancer susceptibility	Participants were open to using telegenetics services as a means of receiving expert, one-on-one cancer genetic counseling locally. The acceptability of care models varied significantly based on geographic barriers, perceived cancer risk, or perceived risk for a hereditary cancer susceptibility disorder.
Orlando et al. (2014) USA	To describe the impact of the Genomic Medicine Model (GMM)for primary care on the identification of patients at increased risk and the resources needed to manage risk	Implement-ation effectiveness	N = 1184 adult patients Patients going in for routine check-ups from October 2009 to April 2012 input information into MeTree, a web-based program that collects family and personal medical history and other information from patients for risk calculation	With marked success, MeTree can integrate guideline risk stratification and management into the care of primary care populations. It is anticipated that using this system will lead to an increase in resource (e.g., genetic counseling). In accordance with the GMM, MeTree is one way to anticipate increased demands and inform guidelines.
Otten et al. (2016a) The Netherlands	To examine the potential benefits of online counseling services for patient access to care and satisfaction	Pre-post survey	N = 57 patients participating in online counseling	Results suggest online counseling is valuable in addition to existing in-person care. Participants who chose online counseling reported higher satisfaction. The psychological outcomes of online patients were comparable to controls. Technical limitations do exist, but this method of telegenetics service delivery is feasible for implementation.
Rahimzadeh and Bartlett (2014) USA	To provide re-commendations for future translational initiatives that aim to maximize the capacities of genomic medicine, without interfering with primary health care delivery	Commentary	Literature primary care and genomic medicine reviewed to make recommendations	Since primary care is charged with health education, advocacy, and prevention more than most specialties, the implementation of genomic medicine tools needs to preserve the whole-person care philosophy, uphold medical ethics, and develop ways to translate genetic risk of common chronic diseases into clinically actionable methods.
Rolnick et al. (2011) USA	To elicit genetic counselors’ perspectives on the identification of high-risk patients and barriers to referral of high-risk patients for cancer genetic counseling services	Cross-sectional	N = 28 genetic service providers from 8 participating sites A 17-question survey deployed from March to June 2009	Results suggested that referrals from specialized practices outnumber those from primary care practices. Participants discussed using a family history tool that could be modified to screen all primary care patients. Participants perceived that the patients referred to them assign a low priority to familial cancer risk genetic counseling.
Sane et al. (2015) Australia	To investigate the perceived interest in private genetic counseling services in collaboration with PCPs in Australasia	Cross-sectional	N = 78 members of the Australasian Society of Genetic Counselors Online survey administered.	About 85% of participants showed interest towards the potential for clinical work in private practice, with many expressing preferences for collaboration with clinical geneticists instead of general practitioners. Expansion into private practice is more likely to occur in primary care.
Saul (2013) USA	To provide information from the colloquium on the delivery of genetic services in pediatric primary care practices	Report - colloquium	Articles and other information from the colloquium sponsored by the Health Resources and Services Ad-ministration Maternal and Child Health Bureau reviewed	Four major recommendations were generated: (1) define practical genetics and genomics use for pediatricians; (2) identify, develop, and provide the tools and resources that are needed to integrate genetics and genomics into primary care; (3) integrate genetics and genomics into primary care training at all levels; and (4.) provide an evidence base for optimal integration of genetics and genomics.
Scott and Trotter (2013) USA	To evaluate current research to determine suitability of primary care with the provision of genetic services	Commentary	Literature related to the intersection of primary care and genetic health services examined and used to provide recommendations for integration	Genetic health care services are complex, and genetic tests and results from those tests have specific risks and benefits, especially for pediatric patients. The longitudinal nature of primary care provides the opportunity to obtain and continually update the family history, which is one of the most powerful genetic tools.
Stevens and Kim (2016) USA	To determine whether vulnerable and non-vulnerable children’s primary care experiences have become more aligned with the medical home model over time across the country	Quantitative retrospective analysis	Data analyzed from the families of 289,672 children who responded to surveys in 2003, 2007, and 2011–2012. Indicators of 4 medical home features (access, continuity, comprehensiveness, and family-centeredness) assessed	Children’s health care experiences have become more aligned with the medical home model. This is the case in spite of an increase in child vulnerability during the same time frame. Children with multiple sociodemographic risk factors seemed to experience larger changes in the studied indicators.
Traxler et al. (2014) USA	To evaluate the application of B-RST as a screening tool in state public health centers serving mostly women who are minorities and/or disadvantaged and to implement a system for genetic education and follow-up	Implement-ation	N = 2159 women screened 2012–13 A positive B-RST screening result was obtained for 130 women-110 agreed to follow up.	The project identified underserved and minority women at increased risk for hereditary breast and ovarian cancer who would not have otherwise had access to appropriate care. Widespread utilization of the study protocol may contribute to a reduction in health inequity among high-risk and minority populations.
Ufer et al. (2018) USA	To describe the Care Coordination: Empowering Families (CCEF) training program and results of an evaluation from its pilot program across seven states	Program evaluation	N = 190 family caregivers of children with genetic conditions and other special healthcare needs Participant asked to evaluate CCEF prior to and immediately following the training	Families who attended the training reported being the primary source of care coordination for their children and 83.7% saw their role in their child’s healthcare changing as a result of the training. Findings suggest that peer support and communication with providers increased as a result of the training over the course of the study.
Unim et al. (2019) Europe, Canada, USA, Australia, New Zealand	To evaluate genetic services and identify delivery models for the provision of genetic testing in European and extra-European countries	Systematic Review	N = 117 articles included Five electronic resources accessed to identify articles published 2000–2015	Study identified 148 genetic programs, offering genetic tests mainly for BRCA1/2, Lynch syndrome, and newborn screening. As healthcare professions with different backgrounds were increasingly providing genetic services, the study classified the programs into five models: (1) geneticists model; (2) primary care model; (3) medical specialist model; (4) population screening programs model; and (5) direct-to-consumer model. While appropriate model depends on the type of system in which care is delivered, these models require the integration of genetics into all medical specialties, collaboration among health professionals, and redistribution of professional roles.
Wilkes et al. (2017) USA	To explore whether an interactive, web-based genetics curriculum directed at PCPs in non-academic primary care settings was superior at changing knowledge, attitudes, and behaviors when compared to a traditional educational approach	RCT	N = 121 PCPs from California and Pennsylvania randomized to either intervention or control group Intervention consisted of a six-hour interactive web-based curriculum covering communication skills, basics of genetic testing, risk assessment, ethical, legal, and social implications (ELSI), and practice behaviors; controls received traditional approach	While the intervention group demonstrated significant increases in learning and retention and shared decision-making practices, there were few differences in behavior changes around ELSI discussions. The main barrier could be that busy physicians need systems-level support to engage in meaningful discussions around genetics issues.
Williams et al. (2018) USA	To test the effectiveness of an enhanced genomic report on patient-centered outcome domains, which included communication, engagement, and satisfaction	RCT	N = 52 parents of children with undiagnosed congenital disorders who had participated in a previous study offering whole-genome sequencing for their affected child Parents first stratified by receipt of a diagnostic result and uninformative result and then randomized within each group to an intervention arm to receive the GenomeCOMPASS™ report or to the usual care arm to receive a summary letter from the medical geneticist	Parents for whom the report was most relevant were highly satisfied with the report, indicating that they felt more confident and better able to advocate for their child and that they had shared the report with different people involved in their children’s care. Unsolicited communication from external providers confirmed the value of the enhanced report to providers. This resource can support patients, their families, and healthcare providers using the electronic health records to disseminate accurate genetic information, provide real-time management support, and to connect families with appropriate resources.